Hereditary ataxia is a group of rare genetic neuromuscular disorders. It is characterized by degenerative changes in the brain and spinal cord. It can affect a person anytime between infancy through adulthood. Major symptoms include lack of coordination of the muscles used for voluntary movement. Many different hereditary ataxia's have been characterized, including Friedreich's Ataxia, Marie's Ataxia, Ataxia Telangiectasia, Vasomotor Ataxia, Vestibulocerebellar, Ataxiadynamia, Ataxiophemia, Olivopontocerebellar Atrophy, and Charcot-Marie-Tooth Disease.
Autosomal recessive Cayman cerebellar ataxia, or Cayman ataxia, was identified in a population isolate on Grand Cayman Island (Johnson et al., Neurology 28:352 [1978]). This disorder is characterized by marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. Retinal abnormalities are absent.
There is a need for identification of the molecular basis of ataxia, as well as for improved diagnostics and treatments for ataxia.